ClinVar Miner

Submissions for variant NM_017757.3(ZNF407):c.3974C>G (p.Pro1325Arg)

gnomAD frequency: 0.00016  dbSNP: rs368198591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195013 SCV000249522 likely benign not specified 2014-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000195013 SCV005182265 uncertain significance not specified 2024-05-01 criteria provided, single submitter clinical testing The c.3974C>G (p.P1325R) alteration is located in exon 1 (coding exon 1) of the ZNF407 gene. This alteration results from a C to G substitution at nucleotide position 3974, causing the proline (P) at amino acid position 1325 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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